Q7Z388
PR
Gene name |
DPY19L4 |
Protein name |
Probable C-mannosyltransferase DPY19L4 |
Names |
Dpy-19-like protein 4, Protein dpy-19 homolog 4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:286148 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q7Z388
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7Z388-F1 | Predicted | AlphaFoldDB |
560 variants for Q7Z388
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA4812435 rs143132758 |
2 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA181454772 rs867920436 |
3 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 7 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138373475 CA4812455 |
7 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA181460536 rs773027960 |
7 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773027960 CA4812454 |
7 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162500025 CA371733559 |
8 | P>L | No |
ClinGen gnomAD |
|
|
CA371733577 rs1481211518 |
11 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs770366232 CA4812456 |
12 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773956154 CA4812457 |
12 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA181460572 rs770366232 |
12 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812460 rs202036194 |
15 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141766630 CA181460602 |
16 | K>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4812461 rs754314433 |
17 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA371733628 rs1371216314 |
19 | S>F | No |
ClinGen gnomAD |
|
|
CA181460616 rs535116985 |
19 | S>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 24 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1386891470 CA371733672 |
25 | S>F | No |
ClinGen TOPMed |
|
|
CA371733690 rs1292781592 |
28 | E>G | No |
ClinGen gnomAD |
|
|
CA4812463 rs1554586116 |
28 | E>K | No |
ClinGen Ensembl |
|
|
rs1415392557 CA371733704 |
30 | K>* | No |
ClinGen TOPMed |
|
|
CA4812465 rs375072866 |
31 | I>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA371733717 rs1272415101 |
32 | S>G | No |
ClinGen gnomAD |
|
|
CA4812466 rs369139666 |
33 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369139666 CA371733724 |
33 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1205107026 CA371733732 |
34 | I>V | No |
ClinGen gnomAD |
|
|
CA4812467 rs758889948 |
37 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1182829108 CA371733759 |
38 | E>G | No |
ClinGen gnomAD |
|
|
CA4812468 rs780030433 |
38 | E>K | No |
ClinGen ExAC gnomAD |
|
|
COSM606778 CA371733767 rs1385399777 |
39 | R>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 39 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751608947 CA4812469 |
41 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4812470 rs755250249 |
42 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371735586 rs1263719363 |
43 | H>L | No |
ClinGen gnomAD |
|
|
rs1302970588 CA371733807 |
43 | H>Y | No |
ClinGen gnomAD |
|
|
rs906981088 CA181468180 |
45 | L>S | No |
ClinGen Ensembl |
|
|
CA4812501 rs570665836 |
48 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs570665836 CA4812502 |
48 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376399636 CA4812503 |
48 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771724579 CA4812504 |
50 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812505 rs532088718 |
51 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4812508 rs773500546 |
53 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA371735692 rs1365255202 |
54 | I>T | No |
ClinGen TOPMed |
|
|
rs1417298810 CA371735705 |
56 | C>R | No |
ClinGen gnomAD |
|
|
CA371735708 rs1292709205 |
56 | C>Y | No |
ClinGen TOPMed |
|
|
CA181468260 rs79186146 |
58 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA371735725 rs79186146 |
58 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA371735734 rs1371400784 |
59 | A>T | No |
ClinGen TOPMed |
|
|
CA4812509 COSM1102653 rs147410800 |
59 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed |
|
CA371735748 rs1586321544 |
60 | V>G | No |
ClinGen Ensembl |
|
|
rs1563575743 CA371735750 |
61 | T>A | No |
ClinGen Ensembl |
|
|
rs900482797 CA181468266 |
61 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4812512 rs200296667 |
63 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774851948 CA4812511 |
63 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA371735783 rs1384157080 |
64 | M>I | No |
ClinGen gnomAD |
|
|
CA181468289 rs763422218 |
65 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs372607857 CA181468286 |
65 | M>L | No |
ClinGen gnomAD |
|
|
rs996218885 CA181468287 |
65 | M>R | No |
ClinGen Ensembl |
|
|
CA4812513 rs767611141 |
66 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483217212 CA371735808 |
67 | A>T | No |
ClinGen TOPMed |
|
|
rs1283831609 CA371735819 |
68 | L>V | No |
ClinGen gnomAD |
|
|
CA4812515 rs756337341 |
69 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4812514 rs184823863 |
69 | Y>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4812517 rs753645744 |
71 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1586321739 CA371735866 |
73 | Y>C | No |
ClinGen Ensembl |
|
|
CA4812519 rs778797252 |
74 | H>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1196155 rs1480044355 CA371735874 |
74 | H>Y | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA181468360 rs865932749 |
75 | E>* | No |
ClinGen Ensembl |
|
|
CA4812522 rs779751301 |
76 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764314300 CA4812520 |
76 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812523 rs746507953 |
78 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1181474450 CA371735920 |
78 | F>L | No |
ClinGen gnomAD |
|
|
CA4812524 rs768252823 |
79 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181468408 rs974042932 |
81 | S>F | No |
ClinGen Ensembl |
|
|
rs776348645 CA4812525 |
81 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA371735955 rs1365248365 |
82 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs557194069 CA181468421 |
82 | N>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1586321890 CA371735975 |
84 | Q>E | No |
ClinGen Ensembl |
|
|
CA371721906 rs1254367823 |
85 | E>G | No |
ClinGen TOPMed |
|
|
CA371721918 rs1334460658 |
86 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs747865072 CA371721978 |
88 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812553 rs769400737 |
88 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769400737 CA4812552 |
88 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812551 rs747865072 COSM1553372 |
88 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4812554 rs746214591 |
90 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs772631491 CA181418068 |
91 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA4812555 rs772631491 |
91 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs761032761 CA4812557 |
93 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1266489503 CA371722122 |
94 | G>C | No |
ClinGen TOPMed |
|
|
rs768806336 CA4812559 |
97 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs776536808 CA4812560 |
98 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA371722307 rs1417713182 |
100 | Y>H | No |
ClinGen gnomAD |
|
|
rs375207219 CA181418139 |
103 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4812561 rs375207219 |
103 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA181418144 rs1041029618 |
104 | K>N | No |
ClinGen TOPMed |
|
|
CA371722476 rs1341903713 |
105 | D>E | No |
ClinGen TOPMed |
|
|
CA4812562 rs371297436 |
105 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1398786304 CA371722498 |
106 | M>I | No |
ClinGen TOPMed |
|
|
rs373200887 CA181418149 |
106 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4812563 rs200781402 |
109 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs762838877 CA4812564 |
111 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766028795 CA4812565 |
112 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA4812566 rs149884672 |
113 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371722865 rs773579919 |
115 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812582 rs773579919 |
115 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812583 rs763216824 |
116 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1563579354 CA371722881 |
116 | V>I | No |
ClinGen Ensembl |
|
|
rs773985243 COSM1330859 CA4812585 |
118 | E>K | ovary Variant assessed as Somatic; 0.0 impact. urinary_tract [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA181418908 rs773985243 |
118 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812586 rs759563148 |
120 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA371722951 rs1221238985 |
120 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA371722954 rs1282624523 |
121 | H>N | No |
ClinGen gnomAD |
|
|
CA371722977 rs1316517200 |
122 | N>I | No |
ClinGen gnomAD |
|
|
rs561468632 CA4812588 |
126 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs533084459 CA181418928 |
126 | V>L | No |
ClinGen gnomAD |
|
|
CA4812590 rs755623831 |
128 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs753514894 CA4812592 |
129 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA371723115 rs1229646907 |
130 | T>S | No |
ClinGen TOPMed |
|
|
CA4812593 rs370537621 |
131 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1158866447 CA371723144 |
132 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs780511408 CA4812594 |
133 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA181418955 rs1025032397 |
134 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs747314417 CA4812595 |
134 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1452849142 CA371723236 |
136 | Q>H | No |
ClinGen TOPMed |
|
|
CA4812597 rs144869202 |
136 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371723285 rs1368793862 |
138 | S>F | No |
ClinGen TOPMed |
|
|
CA4812598 rs530182956 |
139 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1586331547 CA371723301 |
139 | L>V | No |
ClinGen Ensembl |
|
|
rs773383970 CA4812600 |
140 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs770014608 CA4812599 |
140 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA4812601 rs376333375 |
141 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4812604 rs759244646 |
142 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4812605 rs149228791 |
143 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1187312946 CA371723468 |
143 | L>P | No |
ClinGen TOPMed |
|
|
rs1187312946 CA371723472 |
143 | L>R | No |
ClinGen TOPMed |
|
|
CA4812606 rs149228791 |
143 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370331089 CA4812607 |
144 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 145 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4812609 rs563627896 |
147 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371723657 rs1442422869 |
150 | Q>K | No |
ClinGen gnomAD |
|
|
rs532866861 CA4812611 |
152 | T>S | No |
ClinGen 1000Genomes ExAC |
|
|
rs1203878710 CA371723749 |
153 | G>S | No |
ClinGen TOPMed |
|
|
rs1164421789 CA371724030 |
158 | I>V | No |
ClinGen TOPMed |
|
|
CA4812629 rs776176882 |
159 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs761228947 CA4812630 |
160 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA181419130 rs200475956 |
161 | V>A | No |
ClinGen 1000Genomes |
|
|
CA181419126 TCGA novel rs1037399939 |
161 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs371835229 CA4812631 |
164 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762624070 CA4812633 |
165 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs566242745 CA4812632 |
165 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4812634 rs768030971 |
166 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA371724282 rs1191754042 |
167 | I>F | No |
ClinGen TOPMed |
|
|
rs753085758 CA4812635 |
167 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812636 rs756738882 |
169 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs778419277 CA4812637 |
171 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA4812638 rs200413522 |
172 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA371724392 rs757295557 CA4812639 |
173 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4812642 rs75768977 |
176 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371724441 rs1477883284 |
178 | A>T | No |
ClinGen gnomAD |
|
|
rs1196437811 CA371724466 |
180 | F>L | No |
ClinGen gnomAD |
|
|
rs1319465295 CA371724480 |
181 | V>L | No |
ClinGen TOPMed |
|
|
rs772252298 CA371724497 |
182 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1469554200 CA371724503 |
182 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1469554200 CA371724500 |
182 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1469554200 CA371724502 |
182 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs772252298 CA4812643 |
182 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs779873478 CA4812644 |
185 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317954185 CA371724596 |
186 | M>I | No |
ClinGen gnomAD |
|
|
rs147936923 CA4812646 |
186 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4812645 rs746798710 |
186 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs776441000 CA4812648 |
187 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776441000 CA4812647 |
187 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772745322 CA4812650 |
189 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs147079289 CA4812652 |
192 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761125239 CA371724713 |
193 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761125239 CA4812654 |
193 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371724757 rs1398802711 |
195 | L>I | No |
ClinGen TOPMed |
|
|
CA371724774 rs1202969798 |
195 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1202969798 CA371724777 |
195 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA371724787 rs1284925121 |
196 | T>A | No |
ClinGen gnomAD |
|
|
CA371724808 rs1378753641 |
197 | V>I | No |
ClinGen TOPMed |
|
|
CA4812656 rs754321957 |
198 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs750494976 CA4812659 |
199 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA371724871 rs1199978411 |
200 | F>L | No |
ClinGen gnomAD |
|
|
CA4812660 rs201963084 |
201 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA181419314 rs1039348523 |
202 | I>T | No |
ClinGen Ensembl |
|
|
CA4812662 rs780254181 |
202 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA181419332 rs899509974 |
203 | N>T | No |
ClinGen Ensembl |
|
|
CA4812664 rs747170559 |
204 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA371729793 rs1259243925 |
206 | D>H | No |
ClinGen gnomAD |
|
|
CA371729799 rs1468064059 |
206 | D>V | No |
ClinGen TOPMed |
|
|
rs375681274 CA181431417 |
208 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs375681274 CA181431414 |
208 | T>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA371729836 rs1563593961 COSM1196894 |
209 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA4812695 rs776919310 |
210 | I>L | No |
ClinGen ExAC |
|
|
rs762233810 CA4812696 |
210 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4812697 rs765458064 |
211 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs867934496 CA181431461 |
212 | Y>H | No |
ClinGen Ensembl |
|
|
CA4812698 rs773726403 |
213 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA4812699 rs140964341 |
214 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4812700 rs766480385 |
215 | P>H | No |
ClinGen ExAC |
|
|
CA371729942 rs1563594051 |
218 | E>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 220 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4812701 rs751614882 |
221 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181431525 rs904265420 |
223 | P>L | No |
ClinGen TOPMed |
|
|
rs1362965157 CA371730063 |
227 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1362965157 CA371730061 |
227 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1407786756 CA371730094 |
229 | I>T | No |
ClinGen TOPMed |
|
|
rs150195982 CA4812703 |
230 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371730111 rs1368732025 |
231 | A>T | No |
ClinGen gnomAD |
|
|
CA4812704 rs138714300 |
232 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 233 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371730151 rs1353280753 |
234 | G>A | No |
ClinGen gnomAD |
|
|
rs549079536 CA4812705 |
234 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1489891563 CA371730166 |
235 | Y>F | No |
ClinGen gnomAD |
|
|
rs1288287342 CA371730159 |
235 | Y>N | No |
ClinGen gnomAD |
|
|
CA4812707 rs749267746 |
238 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1454241810 CA371730218 |
239 | N>D | No |
ClinGen TOPMed |
|
|
CA371730242 rs1192707440 |
240 | L>F | No |
ClinGen gnomAD |
|
|
CA4812710 rs745360330 |
241 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA4812711 rs202233131 |
243 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1024197587 CA181435284 |
250 | L>S | No |
ClinGen gnomAD |
|
|
rs1169211434 CA371731274 |
254 | A>T | No |
ClinGen gnomAD |
|
|
rs145462618 CA4812725 |
256 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1338928199 CA371731316 |
260 | M>T | No |
ClinGen gnomAD |
|
|
CA4812726 rs757076973 |
260 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA4812727 rs778991220 |
261 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA371731324 rs1447307090 |
261 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs370402817 CA4812728 |
263 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371731349 rs1235038148 COSM486769 |
264 | E>G | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1357221109 CA371731358 |
265 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs768165082 CA4812732 |
268 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA4812731 rs778526215 |
268 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812730 rs778526215 |
268 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371731393 rs778526215 |
268 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388981973 CA371731430 |
270 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 274 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1186178773 CA371731537 |
276 | S>Y | No |
ClinGen gnomAD |
|
|
rs1237519190 CA371731554 |
277 | L>P | No |
ClinGen gnomAD |
|
|
rs1450483935 CA371731547 |
277 | L>V | No |
ClinGen TOPMed |
|
|
CA371731568 rs1456146141 |
278 | F>S | No |
ClinGen TOPMed |
|
|
rs749646592 CA4812734 |
281 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA371731657 rs1466406270 |
284 | S>A | No |
ClinGen gnomAD |
|
|
rs1466406270 CA371731655 |
284 | S>P | No |
ClinGen gnomAD |
|
|
CA371731706 rs1324751637 |
287 | Q>* | No |
ClinGen TOPMed |
|
|
rs1175567924 CA371731710 |
287 | Q>R | No |
ClinGen Ensembl |
|
|
CA4812735 rs199882887 |
289 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1349616462 CA371732033 |
291 | V>F | No |
ClinGen gnomAD |
|
|
CA4812759 rs746426201 |
292 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200039340 CA4812761 |
295 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371732074 rs1200047943 |
297 | I>V | No |
ClinGen gnomAD |
|
|
rs747057110 CA4812762 |
299 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158318013 CA371732111 |
300 | F>S | No |
ClinGen gnomAD |
|
|
rs768790617 CA4812763 |
302 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4812764 rs777007703 |
304 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA371732167 rs777007703 |
304 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA371732185 rs1160217477 |
305 | G>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1388488697 CA371732189 |
305 | G>E | No |
ClinGen gnomAD |
|
|
rs762081906 CA4812765 |
308 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4812766 rs762081906 |
308 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4812767 rs772854722 |
309 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4812768 rs762998865 |
310 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776381045 CA181438317 |
311 | E>D | No |
ClinGen TOPMed |
|
|
CA371732340 rs1308154946 |
311 | E>K | No |
ClinGen gnomAD |
|
|
rs1273561453 CA371732376 |
312 | N>S | No |
ClinGen TOPMed |
|
|
rs1353795615 CA371732395 |
313 | P>S | No |
ClinGen gnomAD |
|
|
COSM486771 CA181438345 rs977914403 |
314 | A>D | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA181438349 rs977914403 |
314 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4812769 rs144794373 |
314 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146235628 CA4812770 |
317 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 320 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755732198 CA4812774 |
321 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs374171937 CA4812775 |
322 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371732619 rs1470508564 |
325 | A>V | No |
ClinGen TOPMed |
|
|
rs1366594724 CA371732625 |
326 | A>D | No |
ClinGen gnomAD |
|
|
rs200350534 CA4812777 |
326 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1457373500 CA371732662 |
328 | M>I | No |
ClinGen gnomAD |
|
|
CA181438427 rs921527440 |
333 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs934197674 CA181438433 |
334 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 335 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371732803 rs1428367823 |
335 | L>P | No |
ClinGen TOPMed |
|
|
CA4812796 rs752179534 |
337 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 340 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4812797 rs369952420 |
341 | S>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4812798 rs763651061 |
341 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879095166 CA181438790 |
344 | A>D | No |
ClinGen Ensembl |
|
|
CA4812800 rs1554594603 |
348 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 349 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs558873760 CA371733090 |
353 | Y>* | No |
ClinGen 1000Genomes gnomAD |
|
|
CA371733075 rs1309674369 |
353 | Y>H | No |
ClinGen gnomAD |
|
|
CA371733159 rs1291220142 |
357 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 357 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4812804 rs200461986 |
360 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 363 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259466340 CA371733217 |
363 | N>T | No |
ClinGen gnomAD |
|
|
rs1035998120 CA181438838 |
365 | I>T | No |
ClinGen Ensembl |
|
|
CA4812822 rs148430544 |
368 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371733785 rs1414100736 |
368 | M>K | No |
ClinGen TOPMed |
|
|
CA4812823 rs761488015 |
371 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160463155 CA371733899 |
375 | N>I | No |
ClinGen gnomAD |
|
|
CA371733937 rs1434706130 |
378 | M>K | No |
ClinGen gnomAD |
|
|
rs766697813 CA4812824 |
378 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA4812825 rs751953228 |
383 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1372233778 CA371734120 |
387 | G>R | No |
ClinGen gnomAD |
|
|
CA4812826 rs755604255 |
392 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181440954 rs1005849418 |
395 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA371734615 rs1476356235 |
395 | T>I | No |
ClinGen gnomAD |
|
|
CA371734617 rs1476356235 |
395 | T>K | No |
ClinGen gnomAD |
|
|
CA371734624 rs1169009474 |
396 | M>V | No |
ClinGen gnomAD |
|
|
rs1399777947 CA371734662 |
397 | N>T | No |
ClinGen gnomAD |
|
|
CA181440972 rs1046798713 |
398 | W>C | No |
ClinGen gnomAD |
|
|
CA371734708 rs1376097685 |
399 | L>F | No |
ClinGen TOPMed |
|
|
CA4812848 rs767940893 |
400 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181440983 rs767940893 |
400 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753285878 CA4812849 |
401 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1357487659 CA371734733 |
401 | C>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA371734746 rs1356036618 |
402 | Q>P | No |
ClinGen gnomAD |
|
|
CA371734790 rs1276036550 |
404 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs753938284 CA4812853 |
405 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA371734826 rs1274766241 |
406 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA4812855 rs757486689 |
407 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812854 rs757486689 |
407 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371734899 rs1209550506 |
409 | S>T | No |
ClinGen gnomAD |
|
|
rs1258767705 CA371734942 |
410 | Q>P | No |
ClinGen gnomAD |
|
|
rs144957197 CA4812858 |
412 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4812859 rs746960975 |
413 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812860 rs746960975 |
413 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 414 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4812861 rs147961118 |
415 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4812862 rs141828008 |
415 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769367424 CA4812864 |
418 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs773017332 COSM752460 CA4812866 |
419 | S>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1563605264 CA371735195 |
424 | F>L | No |
ClinGen Ensembl |
|
|
CA371735216 rs1416522804 |
424 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA371735269 rs1286032839 |
426 | I>M | No |
ClinGen TOPMed |
|
|
CA4812869 rs768031016 |
427 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA4812870 rs141669572 |
431 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1352761939 CA371735347 |
432 | C>R | No |
ClinGen TOPMed |
|
|
rs957550037 CA181441083 |
434 | L>V | No |
ClinGen Ensembl |
|
|
rs761141382 CA4812871 |
435 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA4812873 rs754231778 |
436 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs754231778 CA371735392 |
436 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4812872 rs764657457 |
436 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs373678554 CA4812874 |
438 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4812876 rs750677790 |
441 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181441144 rs986275796 |
442 | R>K | No |
ClinGen Ensembl |
|
|
rs968024401 CA371735488 |
443 | R>K | No |
ClinGen TOPMed |
|
|
CA181441167 rs968024401 |
443 | R>T | No |
ClinGen TOPMed |
|
|
rs778047216 CA371736622 |
446 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs778047216 CA181446445 |
446 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4812890 rs768843655 |
446 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476322696 CA371736633 |
447 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs73697022 CA181446465 |
449 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1252535772 CA371736676 |
450 | K>R | No |
ClinGen gnomAD |
|
|
CA181446478 rs982608154 |
453 | V>A | No |
ClinGen TOPMed |
|
|
rs1488530669 CA371736728 |
454 | T>S | No |
ClinGen TOPMed |
|
|
rs1181213716 CA371736745 |
455 | L>R | No |
ClinGen gnomAD |
|
|
rs369223325 CA4812895 |
459 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373704353 CA181446492 |
459 | R>P | No |
ClinGen ESP gnomAD |
|
|
rs373704353 CA371736790 |
459 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
rs750482035 CA4812896 |
460 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371736793 rs1160275225 |
460 | I>V | No |
ClinGen gnomAD |
|
|
CA371736802 rs1460787040 |
461 | G>A | No |
ClinGen gnomAD |
|
|
CA371736810 rs1326081909 |
462 | E>D | No |
ClinGen gnomAD |
|
|
CA4812897 rs377470836 |
463 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 463 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1443873882 CA371736821 |
464 | P>Q | No |
ClinGen gnomAD |
|
|
CA4812899 rs145302525 |
467 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4812900 rs754821431 |
468 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4812901 rs780805166 |
470 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA371736871 rs1440390178 |
471 | I>M | No |
ClinGen TOPMed |
|
|
rs756095185 CA4812903 |
473 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4812904 rs777481966 |
473 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4812905 rs748801007 |
475 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs370211887 CA4812906 |
476 | L>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4812907 rs778639589 |
477 | G>D | No |
ClinGen ExAC gnomAD |
|
|
COSM3432635 CA4812908 rs745462309 |
478 | S>Y | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1415585073 CA371736929 |
481 | M>I | No |
ClinGen gnomAD |
|
|
CA4812909 rs149176074 |
481 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371736927 rs1183894535 |
481 | M>T | No |
ClinGen gnomAD |
|
|
CA181446548 rs149176074 |
481 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375333885 CA181446551 |
483 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA371738715 rs1163374841 |
489 | I>V | No |
ClinGen TOPMed |
|
|
rs1586414462 CA371738736 |
490 | W>* | No |
ClinGen Ensembl |
|
|
rs781664118 CA4812929 |
490 | W>R | No |
ClinGen ExAC |
|
|
rs1296489616 CA371738759 |
492 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1424420474 CA371738763 |
493 | Y>H | No |
ClinGen TOPMed |
|
|
rs1474514285 CA371738786 |
494 | V>G | No |
ClinGen TOPMed |
|
|
rs1231109462 CA371738818 |
496 | M>I | No |
ClinGen gnomAD |
|
|
CA371738814 rs1241764168 |
496 | M>R | No |
ClinGen TOPMed |
|
|
rs368256594 CA4812931 |
497 | L>S | No |
ClinGen ESP TOPMed |
|
|
CA371738898 rs1403561714 |
501 | G>D | No |
ClinGen gnomAD |
|
|
rs1287529797 CA371738888 |
501 | G>S | No |
ClinGen TOPMed |
|
|
CA371738906 rs1212978647 |
502 | V>I | No |
ClinGen TOPMed |
|
|
CA371738928 rs1318605859 |
503 | C>R | No |
ClinGen TOPMed |
|
|
CA4812934 rs770079761 |
504 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs566400675 CA4812936 |
506 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4812937 rs771078205 |
507 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371739000 rs1261952442 |
508 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1350125988 CA371739017 |
509 | M>K | No |
ClinGen Ensembl |
|
|
rs774269532 CA4812938 |
511 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535282179 CA4812939 |
513 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1393936794 CA371739088 |
514 | W>* | No |
ClinGen gnomAD |
|
|
CA181452171 COSM1674015 rs964669273 |
516 | R>* | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1004024819 CA181452172 |
516 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1289849679 CA371739144 |
518 | R>T | No |
ClinGen gnomAD |
|
|
COSM3382347 rs1172841337 CA371739174 |
520 | V>A | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA371739169 rs1401675222 |
520 | V>I | No |
ClinGen TOPMed |
|
|
rs1303039121 CA371739187 |
521 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs923337387 CA181452204 |
522 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs760558847 CA371739221 |
523 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA4812945 rs760558847 |
523 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs763931384 CA4812946 |
525 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA371739485 rs1215219272 |
528 | I>T | No |
ClinGen gnomAD |
|
|
CA371739493 rs1230656186 |
529 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 531 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1044758360 CA371739520 |
531 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1044758360 CA181454868 |
531 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1410858901 CA371739549 |
532 | A>T | No |
ClinGen TOPMed |
|
|
rs1178216500 CA371739563 |
532 | A>V | No |
ClinGen gnomAD |
|
|
CA181454877 rs1049953718 |
533 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA4812968 rs765083122 |
534 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371739654 rs1354004102 |
536 | I>M | No |
ClinGen gnomAD |
|
|
CA371739639 rs1265057986 |
536 | I>V | No |
ClinGen TOPMed |
|
|
rs1052088571 CA181454896 |
538 | G>D | No |
ClinGen TOPMed |
|
|
rs1443023396 CA371739776 |
542 | W>* | No |
ClinGen gnomAD |
|
|
rs1245016183 CA371740241 |
547 | P>L | No |
ClinGen gnomAD |
|
| rs773202621 | 547 | P>S | Variant assessed as Somatic; 7.795e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371740233 rs1475847935 |
547 | P>S | Variant assessed as Somatic; 0.0001264 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4813015 rs752334525 |
548 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4813016 rs757583180 |
548 | R>S | No |
ClinGen ExAC |
|
|
CA371740267 rs1407740866 |
549 | L>S | No |
ClinGen TOPMed |
|
|
rs1393333377 CA371740278 |
550 | M>K | No |
ClinGen gnomAD |
|
|
CA181455532 rs867783437 |
551 | T>K | No |
ClinGen TOPMed |
|
|
CA181455534 rs867783437 |
551 | T>R | No |
ClinGen TOPMed |
|
|
CA371740295 rs779296308 |
552 | E>K | No |
ClinGen ExAC |
|
|
CA4813017 rs779296308 |
552 | E>Q | No |
ClinGen ExAC |
|
|
rs1434257381 CA371740321 |
553 | L>F | No |
ClinGen gnomAD |
|
|
CA371740347 rs1334740924 |
555 | E>K | No |
ClinGen TOPMed |
|
|
rs750934318 CA4813018 |
557 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4813019 rs367974375 |
559 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371740427 rs1315923046 |
560 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA371740425 rs1171512348 |
560 | Y>H | No |
ClinGen TOPMed |
|
|
CA4813020 rs201635041 |
562 | P>A | No |
ClinGen 1000Genomes ExAC |
|
|
CA371740503 rs1586422066 |
565 | V>M | No |
ClinGen Ensembl |
|
|
rs769963946 CA4813021 |
566 | E>H | No |
ClinGen ExAC |
|
|
CA371740518 rs1325688240 |
566 | E>K | No |
ClinGen gnomAD |
|
|
CA4813022 rs747082256 |
568 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4813023 rs768791023 |
569 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA371740592 rs1368058364 |
570 | W>* | No |
ClinGen gnomAD |
|
|
rs372172909 CA181455579 |
570 | W>G | No |
ClinGen ESP TOPMed |
|
|
CA371740696 rs1279557520 |
573 | R>G | No |
ClinGen gnomAD |
|
|
CA181457734 rs1020107712 |
573 | R>S | No |
ClinGen TOPMed |
|
|
CA371740717 rs1351768305 |
574 | Q>* | No |
ClinGen gnomAD |
|
|
CA4813035 rs369567791 |
575 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369567791 CA4813036 |
575 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4813037 rs750786955 |
577 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336863505 CA371740777 |
579 | A>V | No |
ClinGen gnomAD |
|
|
rs868667564 CA181457809 |
581 | F>C | No |
ClinGen Ensembl |
|
|
CA4813038 rs759042489 |
584 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA181457843 rs780712569 |
586 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4813041 rs755134696 |
588 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4813040 rs752057600 |
588 | M>T | No |
ClinGen ExAC |
|
|
CA371740897 rs1363166181 |
589 | G>C | No |
ClinGen gnomAD |
|
|
rs145622169 CA181457891 |
590 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145622169 CA4813043 |
590 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4813046 rs749083138 |
593 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4813047 rs770652121 |
594 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA371740982 rs1373520762 |
595 | T>A | No |
ClinGen gnomAD |
|
|
CA4813049 rs745763406 |
598 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA371741048 rs1563618093 |
599 | V>L | No |
ClinGen Ensembl |
|
|
CA371741118 rs1221972271 |
603 | P>R | No |
ClinGen TOPMed |
|
|
CA371741113 rs1336900627 |
603 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200793864 CA181457914 |
604 | L>P | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 605 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371741184 rs1349817934 |
607 | D>H | No |
ClinGen TOPMed |
|
|
rs775042574 CA4813051 |
607 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181457950 rs893462253 |
609 | D>H | No |
ClinGen Ensembl |
|
|
CA371741220 rs1267457482 |
611 | L>R | No |
ClinGen gnomAD |
|
|
rs1337460742 CA371741229 |
613 | R>G | No |
ClinGen gnomAD |
|
|
rs1195327551 CA371741231 |
613 | R>K | No |
ClinGen gnomAD |
|
|
CA181460973 rs993808539 |
618 | Y>H | No |
ClinGen gnomAD |
|
|
CA181460996 rs778646672 |
620 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4813069 CA371742052 rs547862125 |
622 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD NCI-TCGA |
|
rs146246430 CA4813068 |
622 | S>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4813070 rs199952345 |
624 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM384983 rs746667790 CA371742070 |
624 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4813072 rs746667790 |
624 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4813071 rs746667790 |
624 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4813073 rs776256593 |
625 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4813074 rs761446570 |
627 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431107118 CA371742104 |
627 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1003407514 CA181461034 |
628 | D>A | No |
ClinGen TOPMed |
|
|
rs766949233 CA4813075 |
628 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA181461039 rs867334210 |
630 | Y>C | No |
ClinGen Ensembl |
|
|
CA371742284 rs1279859512 |
638 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 644 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA181461054 rs1033689290 |
646 | A>V | No |
ClinGen TOPMed |
|
|
rs960768827 CA181461060 |
647 | I>T | No |
ClinGen Ensembl |
|
|
CA371742470 rs1381853475 |
649 | N>D | No |
ClinGen gnomAD |
|
|
rs138032429 CA181461074 |
649 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4813080 rs767923269 |
651 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs201689772 CA4813081 |
653 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4813083 rs764265382 |
654 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4813082 rs756340657 |
654 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371742556 rs756340657 |
654 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371742569 rs1374361069 |
655 | R>I | No |
ClinGen TOPMed |
|
|
CA4813084 rs753876311 |
656 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA371742617 rs1454975202 |
658 | R>K | No |
ClinGen TOPMed |
|
|
CA4813085 rs149490733 |
660 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778765025 CA4813086 |
661 | D>G | No |
ClinGen ExAC |
|
| TCGA novel | 661 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750364338 CA4813087 |
663 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA371742729 rs1418932411 |
664 | D>E | No |
ClinGen TOPMed |
|
|
CA4813088 rs758333348 |
664 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4813089 rs143942673 |
665 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781019229 CA4813092 |
666 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4813091 rs768321593 |
666 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777402866 CA4813125 |
674 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371743448 rs1586437514 |
674 | E>D | No |
ClinGen Ensembl |
|
|
CA371743443 rs1295165617 |
674 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA371743440 rs1295165617 |
674 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4813127 rs772594103 |
678 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs879569388 CA181462808 |
681 | S>P | No |
ClinGen TOPMed |
|
|
rs769014044 CA4813130 |
682 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA371743567 rs1223160345 |
683 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4813131 rs145854417 |
685 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4813133 rs149041883 |
685 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4813132 rs149041883 |
685 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776555307 CA4813134 |
686 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1474432878 CA371743613 |
687 | C>Y | No |
ClinGen gnomAD |
|
|
CA371743633 rs1419651873 |
688 | H>Q | No |
ClinGen gnomAD |
|
|
CA4813137 rs751462174 |
691 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs74823177 CA181462837 |
691 | K>R | No |
ClinGen Ensembl |
|
|
rs754731670 CA4813138 |
693 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA371743754 rs1369487954 |
697 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA371743802 rs1472333544 |
700 | Y>C | No |
ClinGen TOPMed |
|
|
rs1425143283 CA371743810 |
701 | F>L | No |
ClinGen gnomAD |
|
|
rs1414761801 CA371743831 |
702 | T>I | No |
ClinGen TOPMed |
|
|
CA4813142 rs755801043 |
703 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1352031701 CA371743842 |
703 | R>S | No |
ClinGen gnomAD |
|
|
rs1435630463 CA371743854 |
704 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA371743850 rs1329319719 |
704 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA371743846 rs1329319719 |
704 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4813144 rs185469101 |
705 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371743877 rs1266228527 |
706 | W>R | No |
ClinGen TOPMed |
|
|
CA4813146 rs756733065 |
708 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA4813147 rs780543885 |
709 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371743934 rs1321841398 |
710 | Y>C | No |
ClinGen TOPMed |
|
|
CA371743958 rs1206411555 |
712 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4813149 rs769208406 |
712 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs748550557 CA4813151 |
713 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371743967 rs1377991986 |
714 | K>E | No |
ClinGen TOPMed |
|
|
CA371743998 rs1436351494 |
718 | V>E | No |
ClinGen TOPMed |
|
|
CA181462999 rs200617581 |
720 | S>A | No |
ClinGen Ensembl |
|
|
CA4813153 rs140198354 |
720 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4813154 rs140198354 |
720 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA181463008 rs140198354 |
720 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766370152 CA4813156 |
722 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185062485 CA371744028 |
723 | S>F | No |
ClinGen gnomAD |
No associated diseases with Q7Z388
No regional properties for Q7Z388
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q7Z388 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| nuclear inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| mannosyltransferase activity | Catalysis of the transfer of a mannosyl group to an acceptor molecule, typically another carbohydrate or a lipid. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan | The glycosylation of a peptidyl-tryptophan residue by the transfer of alpha-mannopyranose from dolichyl-activated mannose to the indole ring. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6NUT2 | DPY19L2 | Probable C-mannosyltransferase DPY19L2 | Homo sapiens (Human) | PR |
| A6X919 | Dpy19l1 | Probable C-mannosyltransferase DPY19L1 | Mus musculus (Mouse) | PR |
| P0CW70 | Dpy19l2 | Probable C-mannosyltransferase DPY19L2 | Mus musculus (Mouse) | PR |
| A2AJQ3 | Dpy19l4 | Probable C-mannosyltransferase DPY19L4 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAEEEGPPVE | LRQRKKPKSS | ENKESAKEEK | ISDIPIPERA | PKHVLFQRFA | KIFIGCLAAV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TSGMMYALYL | SAYHERKFWF | SNRQELEREI | TFQGDSAIYY | SYYKDMLKAP | SFERGVYELT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HNNKTVSLKT | INAVQQMSLY | PELIASILYQ | ATGSNEIIEP | VYFYIGIVFG | LQGIYVTALF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VTSWLMSGTW | LAGMLTVAWF | VINRVDTTRI | EYSIPLRENW | ALPYFACQIA | ALTGYLKSNL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NTYGERFCYL | LMSASTYTFM | MMWEYSHYLL | FLQAISLFLL | DTFSVEQSDK | VYEVYKIYIF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SLFLGYLLQF | ENPALLVSPL | LSLVAALMLA | KCLQLNVKKG | SFVAKIIKVI | NFYLVCTLTI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TLNIIMKMFV | PHKENGHMLK | FLEVKFGLNM | TKNFTMNWLL | CQESLQAPSQ | DFFLRLTQSS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LLPFYILVLI | ICFLSMLQVI | FRRINGKSLK | ETVTLEDGRI | GERPEIIYHV | IHTILLGSLA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MVIEGLKYIW | IPYVCMLAAF | GVCSPELWMT | LFKWLRLRTV | HPILLALILS | MAVPTIIGLS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LWKEFFPRLM | TELMELQEFY | DPDTVELMTW | IKRQAPVAAV | FAGSPQLMGA | IKLCTGWMVT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SLPLYNDDDL | LKRNENIYQI | YSKRSAEDIY | KILTSYKANY | LIVEDAICNE | VGPMRGCRVK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DLLDIANGHM | VCEEGDKLTY | SKYGRFCHEV | KINYSPYVNY | FTRVYWNRSY | FVYKINTVIS |
| FQS |